SE-ATLAS

Pfeiffer-Syndrom Cockayne-Syndrom Typ 2 Charcot-Marie-Tooth-Krankheit/Hereditäre motorische und sensorische Neuropathie Cockayne-Syndrom Typ 1 Cockayne-Syndrom Typ 3 Bartter-Syndrom, pränatales Bartter-Syndrom Typ 3 West-Syndrom Angelman-Syndrom durch paternale UPD 15 Angelman-Syndrom durch maternale Deletion 15q11q13 Bohring-Opitz-Syndrom Bartter-Syndrom mit Hypokalzämie Fabry-Syndrom Cockayne-Syndrom Bartter-Syndrom Typ 4 Leigh-Syndrom mit Leukodystrophie Hypopituitarismus - postaxiale Polydaktylie Alport-Syndrom Leigh-Syndrom mit nephrotischem Syndrom Crouzon syndrome Angelman syndrome Muenke syndrome Antley-Bixler syndrome Fanconi anemia Keratoderma hereditarium mutilans Wilson disease Stickler syndrome type 2 Stickler syndrome type 1 Lafora disease Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Rett syndrome Duane retraction syndrome Leigh syndrome with cardiomyopathy Leigh syndrome Pfeiffer syndrome type 1 COFS syndrome Dursun syndrome Pfeiffer syndrome type 3 Pfeiffer syndrome type 2 Greig cephalopolysyndactyly syndrome Retinitis pigmentosa Partington syndrome Bardet-Biedl syndrome Bartter syndrome X-linked Alport syndrome Autosomal recessive Alport syndrome Autosomal dominant Alport syndrome CHARGE syndrome Usher syndrome type 3 Stargardt disease Stickler syndrome Becker muscular dystrophy Duchenne muscular dystrophy Meckel syndrome Autosomal recessive Stickler syndrome Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome due to a point mutation